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Year Number of Results
2002 2
2005 1
2010 1
2012 2
2014 2
2015 1
2016 1
2017 2
2018 2
2019 2
2020 11
2021 13
2022 14
2023 4
2024 3

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54 results

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Page 1
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H. Kume K, et al. Among authors: ogasawara m. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014. Epub 2023 Jun 19. Am J Hum Genet. 2023. PMID: 37339631 Free PMC article.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: ogasawara m. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Branchpoints as potential targets of exon-skipping therapies for genetic disorders.
Ohara H, Hosokawa M, Awaya T, Hagiwara A, Kurosawa R, Sako Y, Ogawa M, Ogasawara M, Noguchi S, Goto Y, Takahashi R, Nishino I, Hagiwara M. Ohara H, et al. Among authors: ogasawara m. Mol Ther Nucleic Acids. 2023 Jul 17;33:404-412. doi: 10.1016/j.omtn.2023.07.011. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37547287 Free PMC article.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: ogasawara m. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group; Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A. Kumutpongpanich T, et al. Among authors: ogasawara m. JAMA Neurol. 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. JAMA Neurol. 2021. PMID: 34047774 Free PMC article.
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y, Iida A, Ogasawara M, Okubo M, Yonenobu Y, Kinoshita M, Sugie K, Noguchi S, Nishino I. Nishimori Y, et al. Among authors: ogasawara m. Neurol Genet. 2021 Dec 17;8(1):e649. doi: 10.1212/NXG.0000000000000649. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34934811 Free PMC article.
54 results